Canonical Allele Identifier: CA379405055

Gene: DNHD1 RRP8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6568177A>G , CM000673.2:g.6568177A>G	GRCh38
NC_000011.9:g.6589407A>G , CM000673.1:g.6589407A>G	GRCh37
NC_000011.8:g.6545983A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144666.3:c.12473A>G (DNHD1) MANE Select	NP_653267.2:p.His4158Arg
ENST00000254579.11:c.12473A>G (DNHD1) MANE Select	ENSP00000254579.6:p.His4158Arg
NM_144666.2:c.12473A>G (DNHD1)	NP_653267.2:p.His4158Arg
ENST00000254579.10:c.12473A>G (DNHD1)	ENSP00000254579.6:p.His4158Arg
ENST00000525883.5:n.1913A>G (DNHD1)
ENST00000527990.6:c.12473A>G (DNHD1)	ENSP00000436180.2:p.His4158Arg
ENST00000529821.5:n.2679A>G (DNHD1)
ENST00000530197.5:n.1556A>G (DNHD1)
ENST00000532467.1:n.634A>G (DNHD1)
ENST00000533635.5:n.2497A>G (DNHD1)
ENST00000534210.6:n.2742+8894A>G (DNHD1)
XR_930858.1:n.1532-23037T>C (RRP8)
XR_930859.1:n.1531+24543T>C (RRP8)